ClinVar Miner

List of variants in gene combination LOC126806430, TTN reported as uncertain significance by Revvity Omics, Revvity

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 23
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.18938G>C (p.Ser6313Thr) rs200120672 0.00096
NM_001267550.2(TTN):c.18172C>T (p.Arg6058Cys) rs189127014 0.00053
NM_001267550.2(TTN):c.18550G>A (p.Ala6184Thr) rs72648947 0.00046
NM_001267550.2(TTN):c.18557C>T (p.Thr6186Met) rs200359082 0.00010
NM_001267550.2(TTN):c.18267T>A (p.Asp6089Glu) rs754848806 0.00005
NM_001267550.2(TTN):c.18778A>C (p.Lys6260Gln) rs375652574 0.00005
NM_001267550.2(TTN):c.18655G>A (p.Glu6219Lys) rs72648948 0.00004
NM_001267550.2(TTN):c.18542G>A (p.Arg6181Gln) rs201951252 0.00002
NM_001267550.2(TTN):c.18720A>G (p.Arg6240=) rs201395913 0.00002
NM_001267550.2(TTN):c.18247A>G (p.Ile6083Val) rs374012753 0.00001
NM_001267550.2(TTN):c.18586A>G (p.Lys6196Glu) rs756791385 0.00001
NM_001267550.2(TTN):c.18151G>A (p.Glu6051Lys) rs532089368
NM_001267550.2(TTN):c.18197C>T (p.Ser6066Phe)
NM_001267550.2(TTN):c.18371C>A (p.Thr6124Lys) rs1280788914
NM_001267550.2(TTN):c.18521G>T (p.Gly6174Val)
NM_001267550.2(TTN):c.18608G>T (p.Arg6203Ile)
NM_001267550.2(TTN):c.18662A>G (p.Glu6221Gly)
NM_001267550.2(TTN):c.18673A>G (p.Thr6225Ala) rs794727818
NM_001267550.2(TTN):c.18740T>G (p.Leu6247Trp)
NM_001267550.2(TTN):c.18813C>A (p.Cys6271Ter)
NM_001267550.2(TTN):c.18848G>A (p.Ser6283Asn)
NM_001267550.2(TTN):c.18857T>C (p.Val6286Ala)
NM_001267550.2(TTN):c.18966T>C (p.Ser6322=)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.